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Bloomov syndróm

  1. Record numberd001816
    Date06.06.2025
    TypeM - MESH
    Topical termBloomov syndróm
    Other termEnglish (Pseudonym) Bloom-Torre-Machacek Syndrome
    Slovak (Pseudonym) Bloomov-Torreov-Machacekov syndróm
    Slovak (Pseudonym) teleangiektasiae faciales
    See also(Later heading) RecQ helikázy
    UDCC16.131.077.137C16.320.798.313C18.452.284.100C20.673.795.313
    NoteAn autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
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Number of the records: 1  

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